Exome-to-Genome Reflex

Using genome sequencing data, clinical exome interpretation of variants primarily within protein-coding regions (exons) are reported. If the exome interpretation does not fully explain the patient's phenotype, automatic reflex to genome interpretation of variants within the non-coding regions (introns) of the genome and select repeat expansions are reported. Reflex to the genome interpretation includes concurrent mitochondrial genome analysis as a separate report.

NY Approved

Test Overview

Clinical Utility

  • Determination of a clinical diagnosis
  • Identification of a gene implicated in genetic disease
  • In patients with:
    • One or more congenital anomalies1
    • Neurodevelopmental disorders including developmental delay, intellectual disability, and autism spectrum disorder1-3
    • Unexplained epilepsy4
    • A phenotype suggestive of a genetic etiology but that does not correspond to a specific condition for which genetic testing is available5
    • A suspected genetic condition that has a high degree of genetic heterogeneity5
    • A suspected genetic condition for which other available genetic testing options did not identify a diagnosis5
  • Recurrence risk assessment

Test Details

Lab Method

  • Next-Gen Sequencing

Ordering Information

Important Information

Important Information

The Exome-to-Genome Reflex test uses genome sequencing data to provide a report of the exome interpretation, including variants that are present within the coding regions of the genome that are most likely to explain the proband’s (e.g. patient’s) clinical presentation. If the exome interpretation does not sufficiently account for the proband’s phenotype, then reflex to a genome interpretation is automatically activated, enabling a second report that includes additional variants present in the non‑coding genome regions and select repeat expansions. If the genome interpretation is activated, then concurrent mitochondrial genome sequencing and deletion analysis is included, which is issued as a dedicated mitochondrial report.

Samples on the proband and both family members should be submitted at the same time, along with clinical information. If family member samples are not submitted with the proband sample, the indicated family member samples MUST BE RECEIVED WITHIN 3 WEEKS.

If samples from the indicated family members are not received within the specified timeframe, the test code will be modified to reflect the samples received and testing will be activated. Modifications to the test code may impact billing and any prior benefit investigations.

Family member samples submitted for testing should be labeled with the name and date of birth of the person whose sample is contained in the tube, as well as the date of collection.

To ensure that family members are linked properly and in a timely manner, be sure to provide the following information on the test order and Sample Info Card submitted with the sample:

  • Family member Name
  • Family member Date of Birth
  • Patient's Name
  • Patient's Date of Birth
  • Family member's relationship to patient
Trio — Test Code: _GD1009a_GD1010 · CPT Codes*: GD1009a (Exome Interpretation): 81415 x1, 81416 x2 / GD1010 (Genome Interpretation): 81479
Duo — Test Code: _GD1009e_GD1010 · CPT Codes*: GD1009e (Exome Interpretation): 81415 x1, 81416 x1 / GD1010 (Genome Interpretation): 81479
Proband — Test Code: _GD1009b_GD1010 · CPT Codes*: GD1009e (Exome Interpretation): 81415 x1 / GD1010 (Genome Interpretation): 81479
ABN Required: No
Turnaround Time**: Exome Interpretation: as soon as 2 weeks; Genome Interpretation + mitochondrial testing: 1 week
Accepted Specimens:

2-5 mL Blood - Lavender Top Tube, Buccal Swabs, DNA, Skin Punch, Cultured Fibroblasts

Please visit the specimen requirements for more detailed information or contact us with questions.

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs